A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693317



Internal ID15116203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44333415..44336306hg38UCSC Ensembl
Innerchr22:44334408..44335306hg38UCSC Ensembl
Outerchr22:44333415..44337306hg38UCSC Ensembl
chr22:44729295..44732186hg19UCSC Ensembl
Innerchr22:44730288..44731186hg19UCSC Ensembl
Outerchr22:44729295..44733186hg19UCSC Ensembl
chr22:43107952..43110850hg18UCSC Ensembl
Innerchr22:43108952..43109850hg18UCSC Ensembl
Outerchr22:43106952..43111850hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg382892
hg192892
hg182899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3392869
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693317
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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